rs114530232 chr1:42958380 A>G
- Sequence
gcgcggcgcccccggaaggaggcc[A/G]tgtgctcagtgccggcgccaacta
- ASB in cell types
- K562 (myelogenous leukemia) U2OS (osteosarcoma) HepG2 (hepatoblastoma) breast tumor
- ASB for transcription factors
- TYY1_HUMAN MYC_HUMAN EP400_HUMAN ARNT_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| TYY1_HUMAN | n/a | 3.14 | 2.00 | n/a | No Hit | |||
| MYC_HUMAN | 3.50 | -0.21 | 1.38 | -5.90 | Concordant | |||
| EP400_HUMAN | 2.34 | -2.10 | 1.00 | n/a | n/a | |||
| ARNT_HUMAN | 2.49 | -0.20 | 1.00 | n/a | No Hit | |||
| MNT_HUMAN | 1.60 | -1.50 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Kidney_Cortex, Lung, Minor_Salivary_Gland, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood